Evidence map›Paper›PMID 26831942›Full record

ArticleMolecular biology and evolution2016

Recent Selection Changes in Human Genes under Long-Term Balancing Selection.

Cesare de Filippo, Felix M Key, Silvia Ghirotto, Andrea Benazzo, Juan R Meneu, Antje Weihmann, NISC Comparative Sequence Program, Genís Parra, Eric D Green, Aida M Andrés

Abstract read
In one paragraph

Article in Molecular biology and evolution, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Inferring Balancing Selection From Genome-Scale Data.Genome biology and evolution · 2023
    Review
  8. Article
  9. Article
  10. An atlas of CNV maps in cattle, goat and sheep.Science China. Life sciences · 2021
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Cesare de FilippoDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany cesare_filippo@eva.mpg.de aida.andres@eva.mpg.de.
Felix M KeyDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Silvia GhirottoDepartment of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Andrea BenazzoDepartment of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.
Juan R MeneuDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Antje WeihmannDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
NISC Comparative Sequence Program
Genís ParraDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Eric D GreenNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Aida M AndrésDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany cesare_filippo@eva.mpg.de aida.andres@eva.mpg.de.

Funding

Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6M
6 · The paper itself

Abstract

Balancing selection is an important evolutionary force that maintains genetic and phenotypic diversity in populations. Most studies in humans have focused on long-standing balancing selection, which persists over long periods of time and is generally shared across populations. But balanced polymorphisms can also promote fast adaptation, especially when the environment changes. To better understand the role of previously balanced alleles in novel adaptations, we analyzed in detail four loci as case examples of this mechanism. These loci show hallmark signatures of long-term balancing selection in African populations, but not in Eurasian populations. The disparity between populations is due to changes in allele frequencies, with intermediate frequency alleles in Africans (likely due to balancing selection) segregating instead at low- or high-derived allele frequency in Eurasia. We explicitly tested the support for different evolutionary models with an approximate Bayesian computation approach and show that the patterns in PKDREJ, SDR39U1, and ZNF473 are best explained by recent changes in selective pressure in certain populations. Specifically, we infer that alleles previously under long-term balancing selection, or alleles linked to them, were recently targeted by positive selection in Eurasian populations. Balancing selection thus likely served as a source of functional alleles that mediated subsequent adaptations to novel environments.

Indexed as

Selection, Genetic3-Hydroxyacyl CoA DehydrogenasesAllelesBiological EvolutionDatabases, Nucleic AcidDNA-Binding ProteinsEvolution, MolecularGene-Environment InteractionGene FrequencyGenetics, PopulationGenetic VariationHumansReceptors, Cell SurfaceSequence Analysis, DNA3-Hydroxyacyl CoA DehydrogenasesDNA-Binding ProteinsHSD17B10 protein, humanPKDREJ protein, humanReceptors, Cell SurfaceZNF473 protein, humanenvironmental changesnatural selectionout-of-Africa.

Identifiers

PMID26831942
PMCPMC4909129

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.